The Inner Ear in Autosomal Trisomy

Kelemen, George; Hooft, C; Kluyskens, P

doi:10.1159/000274848

Cited by 10 publications

(6 citation statements)

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“…Although anomalies of the auditory organ have been noticed in more than 50 per cent of cases, only a few reports have described in detail the histopathological changes in the temporal bone. [2][3][4][5][6][7][8][9] In this FP = footplate of stapes; F = facial nerve; CT = chorda tympani. report, the histopathological ndings of anomalies in the temporal bone of this syndrome are described.…”

Section: Discussionmentioning

confidence: 99%

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Anomalies of the auditory organ in trisomy 18 syndrome: human temporal bone histopathological study

et al. 2003

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The purpose of this study was to define the histopathological changes in the temporal bone of a fetus with trisomy 18 syndrome, a stillborn due to perosplanchnia. Several anomalies were found including malformation of the auditory ossicles, residual mesenchyme in the middle ear, aberrant tensor tympani muscle, absence of stapedial tendon, aberrant lateral ampullary nerve and wide endolymphatic sinus. The incus body was deformed and separated from the long process by connective tissue and monocrural stapes was noted in the right ear. Three-dimensional reconstruction images provided a clear view of the auditory ossicle malformation. The abnormal findings in our case indicate that ear anomalies in this syndrome might be derived from the component around the first and second branchial arches.

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Section: Discussionmentioning

confidence: 99%

“…To date, the histopathological ndings of the temporal bone have been reported in only a few patients with the trisomy 18 syndrome. [2][3][4][5][6][7][8][9] Here we report the temporal bone histopathological ndings in a stillborn fetus with trisomy 18 syndrome, including a three-dimensional reconstruction of the anomalous auditory ossicles.…”

Section: Introductionmentioning

confidence: 94%

Anomalies of the auditory organ in trisomy 18 syndrome: human temporal bone histopathological study

et al. 2003

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“…On the basis of this extensive review a new classification of congenital anomalies of the labyrinth by the anatomical structures involved is proposed. Trisomy 21 syndrome ( 13) Acrocephalosyndactyly ( 15) Arachnodactyly ( 17 ) Brevicollis ( 18) Cardioauditory syndrome ( 19) Cervicooculoacoustic syndrome (20) Cleft palate, micrognathia, and glossoptosis (21)…”

Section: Methodsmentioning

confidence: 99%

“…Anomalies of Subarcuate Fossa (13) a. Anomalies other than absence, underdevelopment, and displacement:…”

Section: 71mentioning

confidence: 99%

Congenital Anomalies of the Inner Ear Introducing a New Classification of Labyrinthine Anomalies

Suehiro¹,

Sando²

1979

Ann Otol Rhinol Laryngol

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In a literature review of 108 articles a special effort was made to find and classify inner ear anomalies and diseases associated with inner ear anomalies. This study showed the following. Most of the diseases associated with inner ear anomalies are also associated with anomalies in other parts of the body. Hereditary characteristics comprise the most common etiological factor among the diseases associated with inner ear anomalies. Among anomalies observed in the cochlea, the vestibule, and the semicircular canals, anomalies in the cochlea are most frequently associated with various diseases and were observed in 30 of 43 diseases. Anomalies of the vestibule were observed in 25 diseases, and those of the semicircular canals in 18 diseases. Anomalies in both the osseous and the membranous labyrinth were most frequently associated with the diseases studied, as they were observed to occur with 10 of the 43 diseases. In this paper a new classification system for labyrinthine anomalies is introduced, based on this study of the literature.( HL) -Hearing loss detected or supposed to be concomitant with the disease.(D) -Dominant hereditary diseases reported.(R) -Recessive hereditary diseases reported.

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“…Kos et al (4) described in a 25-day-old and in a 3-month-old deaf infant with trisomy 13, cochleosaccular degeneration, absent bony cochlear partition, a deformed modiolus and a widely patent cochlear aqueduct. Kelemen et al (3) described normal findings in the temporal bone of a 1-day-old infant with trisomy 13 syndrome, although the published photograph suggests an abnormal cochlear shape. Maniglia et al (7) studied the temporal bone of a 6.5-month-old male with trisomy 13 syndrome which showed a malformed modiolus and bony partition of the cochlea, membranous abnormalities in the saccule and the cochlea, and a teratoma in the internal auditory meatus.…”

Section: Introductionmentioning

confidence: 99%

Labyrinthine Anomalies in Trisomy 13 Mosaicism

Suga¹,

Matz²,

Schulz³

1976

ORL

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The temporal bone histopathology of a 2-month-old male with a bilateral cleft palate, cleft lip and polydactylia due to trisomy 13 mosaicism was studied. Anomalies in the ear involved a partial absence of the superior semicircular canal, an abnormally wide lateral semicircular canal, underdeveloped cochlear coils, an abnormally broad modiolus, an undeveloped organ of Corti and an underdeveloped basilar membrane in the basal turn of the cochlea, an unusually wide cochlear aqueduct, and deformed stapedial crura.

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The Inner Ear in Autosomal Trisomy

Cited by 10 publications

References 1 publication

Anomalies of the auditory organ in trisomy 18 syndrome: human temporal bone histopathological study

Anomalies of the auditory organ in trisomy 18 syndrome: human temporal bone histopathological study

Congenital Anomalies of the Inner Ear Introducing a New Classification of Labyrinthine Anomalies

Labyrinthine Anomalies in Trisomy 13 Mosaicism

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